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FLASH GENE

Symbol

MC3R

contributors: mct - updated : 15-05-2017

HGNC name	melanocortin 3 receptor
HGNC id	6931

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_019888 1 - 1084 - 360 - 2004 15292330

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine         Endocrine neuroendocrine pituitary       Homo sapiens Nervous brain diencephalon hypothalamus   highly Homo sapiens   brain limbic system       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor
	a DPLIY motif and helix 8, important for MC3R activation and signal transduction
	cytoplasmic end of TM3 and the intracellular loop 2 (ICL2) were critical for MC3R function

conjugated

GlycoP , LipoP , PhosphoP , Other

HOMOLOGY

interspecies	ortholog to murine Mc3r
	homolog to C.elegans Y62H9A.1

Homologene

FAMILY

family A rhodopsin-like G protein-coupled receptors

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	acting as a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes
	having a physiological effects on the cardiovascular system arising from effects on the central nervous system
	important regulator of energy homeostasis, inflammation, and cardiovascular function
	required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for normal regulation of cortical clock function
	required for synchronizing metabolism during entrainment to restricted feeding during the light cycle
	influencing body composition, natriuresis, immune function, and entrainment of circadian rhythms to nutrient intake
	is required for communicating nutritional status to both central and peripheral tissues involved in nutrient partitioning
	specific role for MC3R–containing circuits in communicating nutritional status to the hypothalamic-pituitary-adrenal (HPA) axis and in appropriately regulating nutrient partitioning from white adipose tissue (WAT) to liver in response to fasting
	in the paraventricular nucleus (PVN), may exert a tonic excitatory effect on sympathetic activity
	regulates several physiological functions, including feed efficiency, nutrient partitioning, fasting response, natriuresis, and immune reactions
	is involved in the control of feeding, energy metabolism, and pituitary function
	intact melanocortin signaling via the G protein-coupled receptors (GPCRs), MC4R and MC3R is crucial for body weight maintenance
	neural melanocortin receptors (MCRs), MC3R and MC4R, play crucial roles in the regulation of energy homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	energy homeostasis

PATHWAY

metabolism

signaling

hormonal , signal transduction

coupled to both cAMP and inositol phospholipid/Ca(2+)-mediated signaling systems

a component

INTERACTION

DNA

RNA

small molecule

protein

RNF11 inhibits MC3R, MC4R signaling

cell & other

REGULATION

Other

regulated by estradiol-17 beta

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     increase adiposity, reduce lean mass and white adipose tissue inflammation, and increase sensitivity to salt-induced hypertension constitutional   deletion     resulted in features common to Cushing syndrome including increased adiposity, decreased lean mass, decreased immune function, and increased sensitivity to salt-induced hypertension

Susceptibility

to severe obesity to tuberculosis

Variant & Polymorphism SNP , other	mutation I183N completely abolishes agonist-mediated receptor activationand is associated to severe obesity
	A293T, I335S and X361Sassociated to morbid obesity
	SNP rs6127698 in the promoter region of MC3R showed significant association with tuberculosis susceptibility
	C allele of rs11575886 could be a risk allele for the pulmonary TB by affecting the binding of transcription binding factor (TF)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mc3r(-/-) mouse exhibits mild obesity without hyperphagia or hypometabolism